A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12068767



Internal ID3919488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136556919..136566496hg38UCSC Ensembl
chr5:135892608..135902185hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg389578
hg199578
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606883
Supporting Variants
SamplesHG03572
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12068767
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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